RGD:405010847 Rat Genome Database

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Variant: RGD:405010847 -  Homo sapiens

RGD ID: 405010847
ClinVar ID: CV2987151
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARL2BP  LOC124903697  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 57,283,732
GRCh38 16 57,249,820
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_012106.4:c.261G>A
NG_033905.1:g.9695G>A
NC_000016.10:g.57249820G>A
NC_000016.9:g.57283732G>A
More... 		10/01/2023 synonymous variant likely benign|uncertain significance Inherited retinal dystrophy; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2987151Humanfundus dystrophy  IAGP 8554872ClinVar Annotator: match by term: Retinal dystrophyClinVarPMID:28492532

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2987151HumanRetinal dystrophy  IAGP 8554872ClinVar Annotator: match by term: Retinal dystrophyClinVarPMID:28492532
Gene Symbol:ARL2BP
Accession:NM_012106
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 87
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDALEGESFALSFSSASDAEFDAVVGYLEDIIMDDEFQLLQRNFMDKYYLEFEDTEENKLIYTPIFNEYISLVEKYIEEQ
LLQRIPEFNMAAFTTTLQHHKDEVAGDIFDMLLTFTDFLAFKEMFLDYRAEKEGRGLDLSSGLVVTSLCKSSSLPASQNN
LRH*

Gene Symbol:ARL2BP
Accession:XM_047433883
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDEFQLLQRNFMDKYYLEFEDTEENKLIYTPIFNEYISLVEKYIEEQLLQRIPEFNMAAFTTTLQHHKDEVAGDIFDML
LTFTDFLAFKEMFLDYRAEKEGRGLDLSSGLVVTSLCKSSSLPASQNNLRH*

Gene Symbol:LOC124903697
Accession:XR_007065082
Location:EXON;NON-CODING

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003693902 CLINVAR
  RCV003889322 CLINVAR
MedGen C0854723 CLINVAR
  C3661900 CLINVAR
NCBI Gene ARL2BP CLINVAR
OMIM 615407 CLINVAR
SNOMED CT 314407005 CLINVAR